Consensus Statement of the Neurodevelopmental Pediatrics Chapter of Indian Academy of Pediatrics (IAP) on the Management of Children With Down Syndrome.

JUSTIFICATION: The diagnosis of Down syndrome (DS) is easily made clinically but the management is multi-disciplinary and life-long. There is no standard protocol available for its management in India. PROCESS: A committee was formed under the Indian Academy of Pediatrics (IAP) chapter of Neuro developmental pediatrics consisting of 20 experts working in the related field. The various aspects of the condition were discussed and allotted to the concerned experts related for preparing the guidelines. The material received was collated to form a set of guidelines, which were reviewed by the committee, and a consensus statement made. The guidelines were then approved by the chapter, and by the IAP. OBJECTIVES: To define the condition and to look into the various aspects of antenatal and postnatal diagnosis. To explain briefly about the involvement of the various systems that are involved and formulate recommendations for management. To recommend early and sustained interventional therapies to enable children with DS lead an independent life. RECOMMENDATIONS: The stress on bio-psycho-social strategy for the management of children with DS is reiterated, and the need for a medical, social and rights model is recommended after each section. The age-wise recommendations are also highlighted in addition to the recommendations under each system.

Key learnings from COVID-19 to sustain quality of life for families of individuals with IDD.

COVID-19 has very publicly had profound impacts on the health system of every country in the world. Over 4.5 million people have lost their lives. School closures worldwide where up to 1.6 billion of the world's children have been out of school, are also prominent in world news. Behind these public impacts are the families. In this paper, we focus on the experiences of families with people with intellectual and developmental disabilities (IDD) through analysis of two data sets: the emerging research literature and contributions from our author team who have lived experience of intellectual and developmental disability in the context of COVID-19. From these two data sets, we discern five themes of the impact of the pandemic: on health, on education, on services and supports, on families and finally on relationships beyond the family. We conclude with lessons from those living with intellectual and developmental disabilities, the carers and the individuals themselves to draw implications for supporting families in the context of disability during future pandemics.

Cytogenetic Patterns, Congenital Heart Disease, and Thyroid Dysfunction in Children with Down Syndrome.

OBJECTIVES: To study the cytogenetic patterns, congenital heart disease, and thyroid dysfunction in children with Down syndrome. STUDY DESIGN: This was a retrospective observational study of children with Down syndrome over a period of 20 years, from a major referral institution in Kerala state, South India. The cytogenetic patterns, echocardiography reports, and thyroid profiles were analyzed using SPSS, version 20, software. The prevalence of heart disease and thyroid status in the various cytogenetic patterns also were analyzed. RESULTS: The prevalence of translocation (9.45%) was high compared with the reported 4% in the literature. More of the younger mothers had translocation with a greater, but not statically significant, incidence of heart disease. Mosaic karotypes (3.04%) were also greater than reported (1%) in the literature, with female preponderance. Heart disease was seen in 58% of cases, with atrial septal defect being the most common lesion, compared with atrioventricular septal defect noted in literature. Hypothyroidism was noted in 31.2% with no difference among the cytogenetic groups. There was no case of hyperthyroidism. CONCLUSIONS: The high prevalence of translocation and mosaic Down syndrome stresses the need for routine karyotyping in children with Down syndrome. The need for routine screening and regular follow up of heart diseases and thyroid status should be emphasized.

Health Related Quality of Life of Caregivers of Children and Adolescents With Phenylketonuria: A Systematic Review.

Introduction. Caregivers of children with chronic illness are at risk of having impairment in their quality of life (QOL). We systematically reviewed the available literature related to the Health Related Quality Of Life (HRQOL) of caregivers of children with Phenylketonuria (PKU). Methods. We comprehensively searched in electronic databases including Scopus, Science Direct, CINAHL, Medline, PubMed, Google scholar, and ProQuest. The search criteria included studies with samples more than one, children suffering from PKU, exploring parents or primary caregiver's HRQOL, published from 2010 to 2020, full article available for download and published in English. Eight studies including 5 cross sectional studies, 1 open label trial, and 2 surveys were systematically reviewed. Results. Seven out of 8 studies have established a negative correlation between PKU and parent's HRQOL in at least 1 of the domains. In one study, the HRQOL of parents is higher than their population norms. Conclusion. Most of the caregivers had poor to moderate HRQOL. More studies are required to explore HRQOL of caregivers of children with PKU using similar tools and outcome measures addressing all the domains of HRQOL in order to have more clarity on the impact of PKU on caregiver's HRQOL. Interventional studies might help in improving the HRQOL of caregivers.

COVID-19 related multisystem inflammatory syndrome in children (MIS-C): a hospital-based prospective cohort study from Kerala, India.

Objectives: To study (1) epidemiological factors, clinical profile and outcomes of COVID-19 related multisystem inflammatory syndrome in children (MIS-C), (2) clinical profile across age groups, (3) medium-term outcomes and (4) parameters associated with disease severity. Design: Hospital-based prospective cohort study. Setting: Two tertiary care centres in Kerala, India. Participants: Diagnosed patients of MIS-C using the case definition of Centres for Disease Control and Prevention. Statistical analysis: Pearson χ2 test or Fisher's exact test was used to compare the categorical variables and independent sample t-test or Mann-Whitney test was used to compare the continuous variables between the subgroups categorised by the requirement of mechanical ventilation. Bonferroni's correction was used for multiple comparisons. Results: We report 41 patients with MIS-C, mean age was 6.2 (4.0) years, and 33 (80%) were previously healthy. Echocardiogram was abnormal in 23 (56%), and coronary abnormalities were noted in 15 (37%) patients. Immunomodulatory therapy was administered to 39 (95%), steroids and IVIg both were used in 35 (85%) and only steroids in 3 (7%) patients. Intensive care was required in 36 (88%), mechanical ventilation in 8 (20%), inotropic support in 21 (51%), and 2 (5%) patients died. Mechanical ventilation requirement in MIS-C was associated with hyperferritinaemia (p=0.001). Thirty-seven patients completed 3 months follow-up by April 2021, of whom 6 (16%) patients had some residual echocardiographic changes. Conclusions: Patients with MIS-C in our cohort had varied clinical manifestations ranging from fever with mild gastrointestinal and mucocutaneous involvement to fatal multiorgan dysfunction. Immediate and medium-term outcomes remain largely excellent except for the echocardiographic sequelae in a few patients which are also showing a resolving trend. Hyperferritinaemia was associated with the requirement of mechanical ventilation.

Multisystem Inflammatory Syndrome with Features of Atypical Kawasaki Disease during COVID-19 Pandemic.

There is a global concern of increasing number of children presenting with inflammatory syndrome with clinical features simulating Kawasaki disease, during ongoing COVID-19 pandemic. The authors report a very similar case of 5-y-old boy from a COVID-19 hotspot area who presented in late April 2020 with acute febrile illness with abdominal pain and loose stools followed by shock. On examination, child had bulbar conjunctivitis and extremity edema. Initial investigations showed high inflammatory parameters, elevated serum creatinine and liver enzymes. Echocardiography showed moderate LV dysfunction and normal coronaries. Cardiac enzymes were also elevated, suggesting myocarditis. He was treated with inotropic support, respiratory support with high flow nasal cannula, IV immunoglobulins, aspirin, steroids and diuretics. RT PCR for SARS-CoV-2 was negative twice. His clinical condition improved rapidly, was afebrile from day 2, inflammatory parameters decreased, left ventricular function improved and was discharged after 6 d of hospital stay.

Risk Factors for Post-operative Complications in Primary Oral Cancer Surgery-a Prospective Study.

The surgical treatment of oral cavity cancers can be influenced by post-operative complications. Identification of risk factors based on clinical characteristics may assist in therapeutic planning and thereby helps in reducing complications. Here, an attempt is made to identify the factors associated with post-operative complications (complications developing within 1 month of surgery) in patients undergoing primary oral cancer surgery. Six hundred seventy-six consecutive patients who underwent primary surgery for oral cancer from December 2007 to May 2010 were prospectively evaluated. The risk factors that predict for post-operative complications were analyzed. There was one mortality and 15% (103 patients) had post-operative complications. The complications included metabolic complications, primary site problems, donor site problems, and systemic complications. Fifteen factors were found statistically significant for the development of post-operative complications by univariate analysis. On multivariate analysis, three of the 15 factors, i.e., presence of COPD, full thickness wide excision, and increased duration of surgery were found to be independently associated with the development of post-operative complications. Presence of COPD, full thickness wide excision, and increased duration of surgery were identified as independent risk factors for post-operative complications in primary oral cancer surgery. The development of complications invariably resulted in increased hospital stay. Hence, the prompt recognition of risk factors for complications based on pre-operative clinical characteristics plus the identification of the risks associated with the surgical procedure can help in determining the appropriate therapeutic planning to prevent complications and in achieving cost effectiveness.

Parenting a child with metabolic diseases: Impact on health related quality of life of parents.

The study was conducted to assess the health related quality of life of the parents of children with inborn errors of metabolism (IEM). The study was conducted at the Genetic and metabolic outpatient department of Sultan Qaboos University Hospital, Oman. The parents of children with metabolic diseases who were accompanying their children to the outpatient clinics were the samples. An explorative descriptive survey design and Convenient sampling technique were used to select the sample. Study included 72 parents of children with metabolic diseases aged between 20 and 55 years. The RAND 36-Item Health Survey version was used to assess the health related quality of life of parents. The results shows lower mean scores in subscales of 'general health' and vitality. Parents with higher educational levels showed higher levels of PCS and MCS scores than parents with lower educational levels. Parents with higher monthly income and younger age showed higher quality of life. A significant association was found between supporting persons and HQoL in the dimensions of the "role limitations due to physical" (p<0.03), and social functioning (p<0.04). Empowering the parents by helping them to actively seek and maintain social support is an important step in improving the health related quality of life.